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Article

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

American journal of medical genetics - 23 Apr 1999

Mowat D, Jauch A, Robson L, Smith A

Abstract excerpt

We present a 16-month-old boy with developmental delay, minor anomalies, small penis, and lymphedema of the upper limbs. Routine cytogenetic analysis suspected a duplication of 5q. Fluorescent in situ hybridization (FISH) with a cosmid probe (MCC at the 5q22 APC region) showed tandemly duplicated fluorescent signals on one of chromosomes 5, whereas FISH with three YAC probes (TYAC12 at 5q35, HTY3182 at 5q34, and...

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Share to Abnormalities, Multiple
Share to Chromosome Banding
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10232743
DOI: 10.1002/(sici)1096-8628(19990423)83:5<361::aid-ajmg3>3.0.co;2-w

Genes

APC
MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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